: MeSH: Pemphigus, Benign Familial

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Vesiculobullous > Pemphigus, Benign Familial

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Pemphigus, Benign Familial

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Pemphigus, Benign Familial

Pemphigus, Benign Familial

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An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.

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